ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.432_433dup (p.Thr145fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383047 SCV001582064 pathogenic Galactosylceramide beta-galactosidase deficiency 2020-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr145Ilefs*27) in the GALC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with a positive newborn screening result for GALC-related disease (PMID: 26795590). Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). For these reasons, this variant has been classified as Pathogenic.

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